Incidental Mutation 'R5772:Iqub'
| ID |
445439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24454250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 544
(M544I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052277
AA Change: M544I
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: M544I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DAF|A
|
119 |
216 |
1e-38 |
PDB |
|
Blast:UBQ
|
129 |
199 |
3e-26 |
BLAST |
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
306 |
N/A |
INTRINSIC |
|
IQ
|
333 |
355 |
1.74e-1 |
SMART |
|
low complexity region
|
357 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
742 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932416K20Rik |
G |
A |
8: 105,524,271 (GRCm39) |
|
noncoding transcript |
Het |
| Abcg8 |
A |
T |
17: 84,994,127 (GRCm39) |
E48V |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,911,406 (GRCm39) |
T289A |
probably benign |
Het |
| Atf6 |
T |
A |
1: 170,574,758 (GRCm39) |
D560V |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,404,362 (GRCm39) |
K183N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,730,696 (GRCm39) |
L52P |
probably damaging |
Het |
| Cct3 |
T |
A |
3: 88,208,274 (GRCm39) |
N61K |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 77,002,177 (GRCm39) |
V10A |
unknown |
Het |
| Col26a1 |
G |
A |
5: 136,876,420 (GRCm39) |
Q67* |
probably null |
Het |
| Cyp2d34 |
T |
C |
15: 82,501,341 (GRCm39) |
D329G |
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,422,247 (GRCm39) |
I58F |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,401,931 (GRCm39) |
L269P |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,806,154 (GRCm39) |
G325D |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,707 (GRCm39) |
K2861* |
probably null |
Het |
| Ednra |
A |
G |
8: 78,401,696 (GRCm39) |
I198T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,524,115 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,034,409 (GRCm39) |
P1068S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,815,084 (GRCm39) |
M3606L |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,953,413 (GRCm39) |
W238R |
probably damaging |
Het |
| Gm7713 |
T |
C |
15: 59,866,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gprin3 |
A |
T |
6: 59,331,398 (GRCm39) |
V303D |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,570,629 (GRCm39) |
V2178D |
possibly damaging |
Het |
| Hoxa11 |
A |
G |
6: 52,222,380 (GRCm39) |
V107A |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,258 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
G |
1: 180,161,818 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,190 (GRCm39) |
V1195E |
probably damaging |
Het |
| Kif12 |
C |
A |
4: 63,084,178 (GRCm39) |
R608M |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,952,709 (GRCm39) |
|
probably null |
Het |
| Lrrc24 |
T |
C |
15: 76,606,910 (GRCm39) |
E162G |
probably damaging |
Het |
| Med6 |
A |
G |
12: 81,626,418 (GRCm39) |
S119P |
probably damaging |
Het |
| Mmab |
A |
C |
5: 114,574,775 (GRCm39) |
L166R |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,566 (GRCm39) |
R112G |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,651,873 (GRCm39) |
K737R |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,970 (GRCm39) |
S4352G |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,517 (GRCm39) |
T262S |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,504,712 (GRCm39) |
D307E |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,057 (GRCm39) |
Y218* |
probably null |
Het |
| Or6d12 |
A |
C |
6: 116,492,912 (GRCm39) |
D58A |
possibly damaging |
Het |
| Pdzrn3 |
G |
A |
6: 101,149,275 (GRCm39) |
S351L |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,597,252 (GRCm39) |
I2804K |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Resp18 |
A |
G |
1: 75,250,644 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,892,908 (GRCm39) |
M259V |
probably benign |
Het |
| Rhot2 |
A |
T |
17: 26,058,781 (GRCm39) |
S540T |
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,241,282 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,137,265 (GRCm39) |
Y216C |
probably damaging |
Het |
| Scgb2b18 |
G |
A |
7: 32,873,255 (GRCm39) |
L5F |
unknown |
Het |
| Slamf7 |
T |
C |
1: 171,466,838 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
T |
C |
19: 6,590,479 (GRCm39) |
N237S |
possibly damaging |
Het |
| Spen |
A |
T |
4: 141,205,495 (GRCm39) |
V1044D |
unknown |
Het |
| Sqor |
A |
T |
2: 122,651,261 (GRCm39) |
M175L |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tars3 |
T |
G |
7: 65,333,873 (GRCm39) |
F632V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,191 (GRCm39) |
V1008A |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,015,039 (GRCm39) |
H554R |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,744 (GRCm39) |
D1256V |
possibly damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,794 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Ttc23l |
C |
T |
15: 10,551,555 (GRCm39) |
C57Y |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,988,949 (GRCm39) |
C158S |
probably benign |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,647 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp629 |
T |
A |
7: 127,210,307 (GRCm39) |
I501F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,702 (GRCm39) |
Y542C |
probably damaging |
Het |
|
| Other mutations in Iqub |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Iqub
|
APN |
6 |
24,501,005 (GRCm39) |
splice site |
probably benign |
|
|
IGL01447:Iqub
|
APN |
6 |
24,505,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01621:Iqub
|
APN |
6 |
24,446,211 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01702:Iqub
|
APN |
6 |
24,500,312 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01917:Iqub
|
APN |
6 |
24,479,318 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02411:Iqub
|
APN |
6 |
24,449,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02580:Iqub
|
APN |
6 |
24,501,398 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02704:Iqub
|
APN |
6 |
24,505,909 (GRCm39) |
splice site |
probably benign |
|
|
IGL02901:Iqub
|
APN |
6 |
24,454,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Iqub
|
UTSW |
6 |
24,505,750 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0304:Iqub
|
UTSW |
6 |
24,454,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0391:Iqub
|
UTSW |
6 |
24,446,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0453:Iqub
|
UTSW |
6 |
24,450,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Iqub
|
UTSW |
6 |
24,479,262 (GRCm39) |
nonsense |
probably null |
|
|
R0465:Iqub
|
UTSW |
6 |
24,503,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Iqub
|
UTSW |
6 |
24,505,809 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0606:Iqub
|
UTSW |
6 |
24,501,260 (GRCm39) |
splice site |
probably benign |
|
|
R1146:Iqub
|
UTSW |
6 |
24,505,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1146:Iqub
|
UTSW |
6 |
24,505,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1238:Iqub
|
UTSW |
6 |
24,505,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1452:Iqub
|
UTSW |
6 |
24,491,558 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1927:Iqub
|
UTSW |
6 |
24,491,670 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3195:Iqub
|
UTSW |
6 |
24,462,036 (GRCm39) |
splice site |
probably benign |
|
|
R4438:Iqub
|
UTSW |
6 |
24,505,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4577:Iqub
|
UTSW |
6 |
24,501,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Iqub
|
UTSW |
6 |
24,479,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Iqub
|
UTSW |
6 |
24,450,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4860:Iqub
|
UTSW |
6 |
24,450,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4906:Iqub
|
UTSW |
6 |
24,501,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5605:Iqub
|
UTSW |
6 |
24,505,620 (GRCm39) |
missense |
probably benign |
|
|
R5801:Iqub
|
UTSW |
6 |
24,449,768 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5853:Iqub
|
UTSW |
6 |
24,491,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6423:Iqub
|
UTSW |
6 |
24,491,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6475:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Iqub
|
UTSW |
6 |
24,505,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7331:Iqub
|
UTSW |
6 |
24,500,393 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7530:Iqub
|
UTSW |
6 |
24,450,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7997:Iqub
|
UTSW |
6 |
24,501,413 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8050:Iqub
|
UTSW |
6 |
24,503,784 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8141:Iqub
|
UTSW |
6 |
24,491,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8153:Iqub
|
UTSW |
6 |
24,450,789 (GRCm39) |
nonsense |
probably null |
|
|
R8163:Iqub
|
UTSW |
6 |
24,449,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8702:Iqub
|
UTSW |
6 |
24,461,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Iqub
|
UTSW |
6 |
24,479,307 (GRCm39) |
nonsense |
probably null |
|
|
R8899:Iqub
|
UTSW |
6 |
24,505,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9075:Iqub
|
UTSW |
6 |
24,446,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Iqub
|
UTSW |
6 |
24,450,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9240:Iqub
|
UTSW |
6 |
24,505,622 (GRCm39) |
missense |
probably benign |
|
|
R9256:Iqub
|
UTSW |
6 |
24,446,198 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0025:Iqub
|
UTSW |
6 |
24,500,383 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Iqub
|
UTSW |
6 |
24,500,242 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGCGCTTAGATTTGAC -3'
(R):5'- CTGAGTCATGTGGTGCATATTATC -3'
Sequencing Primer
(F):5'- CCGCGCTTAGATTTGACATAAAGC -3'
(R):5'- CATGTGGTGCATATTATCAAACTAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation